Research Topics
Genomes and Genes | Esther KorpershoekSummaryAffiliation: Erasmus MC Country: The Netherlands Publications
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Detail Information
Publications
Murine models and cell lines for the investigation of pheochromocytoma: applications for future therapies?Esther Korpershoek
Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Room Ae304, P O Box 2040, 3000, CA, Rotterdam, The Netherlands
Endocr Pathol 23:43-54. 2012..These studies also indicate that some mouse models and both mouse PCC cell lines are suitable for testing new therapies for metastatic PCC...
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomasEsther Korpershoek
Department of Pathology, Erasmus MC University Medical Center Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands
J Clin Endocrinol Metab 96:E1472-6. 2011..A recent report described a patient with an abdominal paraganglioma, immunohistochemically negative for SDHA, and identified a causal germline mutation in SDHA...
Intra-tumoral molecular heterogeneity in benign and malignant pheochromocytomas and extra-adrenal sympathetic paragangliomasEsther Korpershoek
Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, 3000 CA Rotterdam, The Netherlands
Endocr Relat Cancer 17:653-62. 2010..We demonstrate that malignant PCC and sPGL have more intra-tumoral molecular heterogeneity than benign tumors, which suggests that benign and malignant PCC and sPGL have a different pathogenesis...
Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomasJosé Gaal
Department of Pathology, Josephine Nefkens Institute, Room Ae304, Erasmus MC, University Medical Center Rotterdam, P O Box 2040, 3000 CA Rotterdam, The Netherlands
J Clin Endocrinol Metab 95:1274-8. 2010..Conclusion: IDH mutations are very rare in paragangliomas and pheochromocytomas and do not appear to play an important role in oncogenic HIF activation known to be present in these tumors...
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndromeJosé Gaal
Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands
J Clin Endocrinol Metab 94:4367-71. 2009..However, in parasympathetic paragangliomas occurring in VHL disease, biallelic inactivation of the VHL gene has not been demonstrated to date...
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysisFrancien H van Nederveen
Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, Rotterdam, Netherlands
Lancet Oncol 10:764-71. 2009..We investigated whether SDHB immunohistochemistry could effectively discriminate between SDH-related and non-SDH-related phaeochromocytomas and paragangliomas in large retrospective and prospective tumour series...
Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paragangliomaEsther Korpershoek
Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center Rotterdam, JNI room 222, PO Box 2040, 3000 CR Rotterdam, The Netherlands
Endocr Relat Cancer 14:453-62. 2007..We suggest that sequential mutation analysis should be directed first at RET, followed by VHL and SDHD for patients with bilateral adrenal PCC at diagnosis, and at SDHB and SDHD for patients with sPGL...
Frequent loss of 17p, but no p53 mutations or protein overexpression in benign and malignant pheochromocytomasBart Jeroen Petri
Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Mod Pathol 21:407-13. 2008..We conclude that, although there is frequent loss of the p53 locus on 17p, the p53 gene does not appear to play a major role in pheochromocytoma tumorigenesis...
Array-comparative genomic hybridization in sporadic benign pheochromocytomasFrancien H van Nederveen
Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
Endocr Relat Cancer 16:505-13. 2009..In addition, genes on 21q and 22q might play a more important role in PCC pathogenesis than had been assumed thus far...
Trp53 inactivation leads to earlier phaeochromocytoma formation in pten knockout miceEsther Korpershoek
Departments of Pathology Neurology, Josephine Nefkens Institute, Erasmus Medical Centre, University Medical Centre Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands Department of Paediatric Oncology and Haematology, Erasmus Medical Centre, Sophia Children s Hospital, Rotterdam, The Netherlands
Endocr Relat Cancer 19:731-40. 2012..Therefore, the present model appears to be a suitable model that might allow the preclinical study of new therapeutics for these tumours...
Conditional Pten knock-out mice: a model for metastatic phaeochromocytomaEsther Korpershoek
Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
J Pathol 217:597-604. 2009..The mouse model should allow further studies into the pathogenesis of human malignant PCCs and into therapeutic strategies for these tumours...
New developments in the detection of the clinical behavior of pheochromocytomas and paragangliomasRonald R de Krijger
Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Endocr Pathol 17:137-41. 2006..In this article, recent attempts at marker detection, such as those mentioned above, as well as emerging knowledge on the molecular abnormalities in benign and malignant PCC and PGL will be presented...
The occurrence of SDHB gene mutations in pheochromocytomaFrancien H van Nederveen
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, Room Be 232, P O Box 1738, 3000 DR, Rotterdam, The Netherlands
Ann N Y Acad Sci 1073:177-82. 2006..Also, a link has been established between malignant behavior and inactivating mutations of SDHB. In this article we review the published SDHB gene mutations, as well as the location and behavior of the resulting PCCs...
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumorsJosé Gaal
Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
Mod Pathol 24:147-51. 2011..In case of negative SDHB staining in GISTs, Carney-Stratakis syndrome or Carney triad should be considered and appropriate clinical surveillance should be instituted...
SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumorsLindsey Oudijk
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Rotterdam, The Netherlands
Mod Pathol 26:456-63. 2013..Identifying GISTs with deficient SDH activity warrants additional genetic testing, evaluation and follow-up for inherited disorders and paragangliomas...
Frequent genetic changes in childhood pheochromocytomasRonald R de Krijger
Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Ann N Y Acad Sci 1073:166-76. 2006..From our findings we conclude that (a) a large proportion (40%) of pediatric PCC patients is diagnosed in the context of inherited cancer syndromes, and (b) candidate gene analysis appears to be indicated to detect germline mutations...
Expression of GAD67 and novel GAD67 splice variants during human fetal pancreas development: GAD67 expression in the fetal pancreasEsther Korpershoek
Department of Pathology, Josephine Nefkens Institute, Room 222, Erasmus MC University Medical Centre Rotterdam, P O Box 2040, Dr Molenwaterplein 50, 3000 CA Rotterdam, The Netherlands
Endocr Pathol 18:31-6. 2007..We speculate that the expression of these GAD67 splice variants might be related to human fetal pancreas development...
